Human disease genetics
Close
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles

Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis

Diana Olguín Calderón, Laura E. Kilpatrick, Clément Conil, Quentin Philippot, Masato Ogishi, Joseph Vellutini, Ji Eun Han, Narelle Keating, Hailun Li, Geetha Rao, Jonathan Bohlen, Charles S. Lay, Simon Platt, Gaspard Kerner, Elsa Feredj, Jessica N. Peel, Mana Momenilandi, Yoann Seeleuthner, Candice Lainé, Camille Soudée, Claire Leloup, Cecile Debuisson, Fanny Lanternier, Samuel Bitoun, Stephan Pavy, Xavier Mariette, Aniss Rafik, Hanaa Skhoun, Hanane El Ouazzani, Ismael Abderahmani-Ghorfi, Jamila El-Baghdadi, Andrés Baena, Manuela Tejada-Giraldo, Luis Fernando Barrera, Andrés Augusto Arias, Giovanna Fabio, Maria Carrabba, Melike Emiroglu, Liliana Bezrodnik, Loubna El Zein, Hassan Hammoud, Peter K. Gregersen, Benjamin Terrier, Rafael Leon Lopez, Marion Touzet, Vincent Pestre, Marlène Pasquet, Lars Rogge, Michael Fayon, François Galode, Eric Jeziorski, Darragh Duffy, Lluis Quintana-Murci, Etienne Patin, Charlotte Cunningham-Rundles, Isabelle Meyts, Shen-Ying Zhang, Qian Zhang, Emmanuelle Jouanguy, Bertrand Boisson, Jérémie Rosain, Vivien Béziat, Mohammad Shahrooei, Seyed Alireza Mahdaviani, Nima Rezaei, Nima Parvaneh, Zahra Chavoshzadeh, Niloufar Yazdanpanah, Nathalie Aladjidi, Antoni Noguera-Julian, Ana Esteve-Solé, Laia Alsina, Davood Mansouri, Sevgi Keles, Mediha Gonenc Ortakoylu, Deniz Aygun, Esra Yucel, Ayca Kiykim, Yildiz Camcioglu, Cindy S. Ma, Stuart G. Tangye, Peng Zhang, Laurent Abel, Peter D. Craggs, Jean-Laurent Casanova, Aurélie Cobat, Anne Puel, Jacinta Bustamante, Stephen J. Hill, Stéphanie Boisson-Dupuis
Journal: Journal of Experimental Medicine
J Exp Med (2026) 223 (8): e20252236.
https://doi.org/10.1084/jem.20252236
Published: 09 July 2026
View article titled, Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis
Open the PDF for Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis in another window
Includes: Supplementary data
Journal Articles

ADAR1 loss-of-function variants altering RNA editing define a new interferon-dependent psoriasis subtype

Florence Assan, Margot Tragin, Sahiti Marella, Joanna Lipecka, Kévin Roger, Mohammed Zarhrate, Vincent Bondet, Vincent Nguyen, Fadela Akroun, Patrick Nitschké, Ida Chiara Guerrera, Christine Bole, Araksya Izmiryan, Maria Emilia Puig-Lombardi, Jennifer Fox, Joseph Kirma, Haihan Zhang, Yiqian Gu, Rachael Bogle, Katia Boniface, Julien Seneschal, Luis Seabra, Alice Lepelley, Marie-Louise Frémond, Nadège Bondurand, Emmauelle Jouanguy, Robert L. Modlin, Jean-Laurent Casanova, Jeremy Di Domizio, Michel Gilliet, Emilie Sbidian, Maxime Battistella, Emmanuel Mahé, Sarah Guégan, Lam C. Tsoi, Pascal Richette, Pascal Claudepierre, Arnaud Rigolet, Claire Giannesini, Antonio Costanzo, Darragh Duffy, Brad R. Rosenberg, Dharshini Sathishkumar, Emmanuelle Bourrat, Chung Hsing Chang, Alain Hovnanian, Johann E. Gudjonsson, Yanick J. Crow, Hervé Bachelez
Journal: Journal of Experimental Medicine
J Exp Med (2026) 223 (9): e20260054.
https://doi.org/10.1084/jem.20260054
Published: 09 July 2026
View article titled, ADAR1 loss-of-function variants altering RNA editing define a new interferon-dependent psoriasis subtype
Open the PDF for ADAR1 loss-of-function variants altering RNA editing define a new interferon-dependent psoriasis subtype in another window
Includes: Supplementary data
Journal Articles

LCK’ed in: Inborn errors of immunity in LCK reveal how TCR signaling is calibrated

In Special Collection:
JEM Clinical Immunology Collection 2026
Ahmet Eken, Sara A. Johnson, Serife Erdem, Elena W.Y. Hsieh
Journal: Journal of Experimental Medicine
Series: Genes and Immunity Focus
J Exp Med (2026) 223 (6): e20241046.
https://doi.org/10.1084/jem.20241046
Published: 05 May 2026
View article titled, LCK’ed in: Inborn errors of immunity in LCK reveal how TCR signaling is calibrated
Open the PDF for LCK’ed in: Inborn errors of immunity in LCK reveal how TCR signaling is calibrated in another window
Includes: Supplementary data
Journal Articles

Rethinking disomy: Autosomal expression bias

Dusan Bogunovic
Journal: Journal of Experimental Medicine
Series: Genes and Immunity Focus
J Exp Med (2026) 223 (4): e20241044.
https://doi.org/10.1084/jem.20241044
Published: 23 March 2026
View article titled, Rethinking disomy: Autosomal expression bias
Open the PDF for Rethinking disomy: Autosomal expression bias in another window
Journal Articles

The STING HAQ haplotype and clinical non-penetrance in COPA syndrome

In Special Collection:
JEM Clinical Immunology Collection 2026
Clémence David, Tifenn Wauquier, Alix de Becdelièvre, Camille Louvrier, Maud Tusseau, Cécile Masson, Luis Seabra, Caroline Kannengiesser, Hayssam Al Arab, Ibrahima Ba, Mary Brennan, Alexandre Belot, Nadia Nathan, Hélène Maillard, Héloïse Reumaux, Jérémie Sellam, Jacques Cadranel, Yves Hatchuel, Laurence Weiss, Sébastien de Almeida, Cinthia Rames, Marie Wislez, Clémentine Vigier, Géraldine Labouret, Claire Kastner, François Provot, Julien Tarabeux, Elise Schaefer, Darragh Duffy, Vincent Bondet, Paul Bastard, Anne Puel, Jean-Laurent Casanova, Gillian I. Rice, Brigitte Bader-Meunier, Yanick J. Crow, Alice Lepelley, Marie-Louise Frémond
Journal: Journal of Experimental Medicine
J Exp Med (2026) 223 (4): e20251470.
https://doi.org/10.1084/jem.20251470
Published: 10 March 2026
View article titled, The STING HAQ haplotype and clinical non-penetrance in COPA syndrome
Open the PDF for The STING HAQ haplotype and clinical non-penetrance in COPA syndrome in another window
Journal Articles

DOCK8 and STAT3 cooperate to restrain IgE-inducing T follicular helper cells

Emily R. Siniscalco, Courtney Fisher, Meng-Ping Lu, Jessica D.S. Grassmann, Corinne D. Mack, Roukaya Yaakoubi, Danielle Jacobsen, Qian Chen, Donguk Lee, Priya Rajamanimuthu, Tregony Simoneau, Kahn Preece, Paul Gray, Satoshi Okada, Bertrand Boisson, Basak Kayaoglu, Jeffrey Danielson, Alexandra F. Freeman, Jean-Laurent Casanova, Talal A. Chatila, Helen C. Su, Cindy S. Ma, Adam Williams, Stephanie C. Eisenbarth, Uthaman Gowthaman
Journal: Journal of Experimental Medicine
J Exp Med (2026) 223 (3): e20241707.
https://doi.org/10.1084/jem.20241707
Published: 28 January 2026
View article titled, DOCK8 and STAT3 cooperate to restrain IgE-inducing T follicular helper cells
Open the PDF for DOCK8 and STAT3 cooperate to restrain IgE-inducing T follicular helper cells in another window
Includes: Supplementary data
Journal Articles

SpeckSeq enables high-throughput functional stratification of MEFV variants in autoinflammatory diseases

Pauline Bronnec, Sarah Dalmon, Chloe Briand, Omran Allatif, Martin Broly, Melissa Marcotte, Gianluca Lombardi, Kevin Barthes, Nora Martel, Sandrine Hughes, Benjamin Gillet, Florian Milhavet, Aysima Atilgan, Hervé Bachelez, Serena Palmeri, Ignazia Prigione, Marine Madrange, Léa Savey, Michel Moutschen, Isabelle Jeru, Majdouline El Moussaoui, Alexandre Belot, Emilie Sbidian, Alessandra Carbone, Yvan Jamilloux, Marco Gattorno, Asma Smahi, Sophie Georgin-Lavialle, Guilaine Boursier, Flora Magnotti, Thomas Henry
Journal: Journal of Experimental Medicine
J Exp Med (2025) 223 (2): e20251065.
https://doi.org/10.1084/jem.20251065
Published: 03 December 2025
View article titled, SpeckSeq enables high-throughput functional stratification of MEFV variants in autoinflammatory diseases
Open the PDF for SpeckSeq enables high-throughput functional stratification of MEFV variants in autoinflammatory diseases in another window
Includes: Supplementary data
Journal Articles

Monogenic disorders of the IRF transcription factors

In Special Collection:
Innate Immune Signaling in Infection and Disease
Mattison P. Stojcic, Pariya Yousefi, Catherine M. Biggs, Stuart E. Turvey
Journal: Journal of Experimental Medicine
Series: Genes and Immunity Focus
J Exp Med (2025) 223 (1): e20250939.
https://doi.org/10.1084/jem.20250939
Published: 21 November 2025
View article titled, Monogenic disorders of the IRF transcription factors
Open the PDF for Monogenic disorders of the IRF transcription factors in another window
Journal Articles

Genetically heterozygous - transcriptionally homozygous IRF7 deficiency underlies herpesvirus CNS infections in humans

Marvin Werner, Jonas Holst Wolff, Justin Taft, Thomas Zillinger, Daniëla M. Hinke, Toke S. Barfod, Kerstin De Keukeleere, Franziska Winzig, Bettina Bundgaard, Ryo Narita, Thomas Wisbech Skov, Julie A. Jensen, Sofie E. Jørgensen, Charlotte S. Jørgensen, Morten K. Skouboe, Ria Lassaunière, Joke H. de Boer, Martin R. Jakobsen, Jacob G. Mikkelsen, Dusan Bogunovic, Søren R. Paludan, Renée M. van der Sluis, Trine H. Mogensen
Journal: Journal of Experimental Medicine
J Exp Med (2025) 223 (1): e20250492.
https://doi.org/10.1084/jem.20250492
Published: 29 October 2025
View article titled, Genetically heterozygous - transcriptionally homozygous IRF7 deficiency underlies herpesvirus CNS infections in humans
Open the PDF for Genetically heterozygous - transcriptionally homozygous IRF7 deficiency underlies herpesvirus CNS infections in humans in another window
Includes: Supplementary data
Journal Articles

Pathogenesis of polyglutamine diseases: Piecing together a complex molecular puzzle

Esmeralda Villavicencio Gonzalez, Huda Y. Zoghbi
Journal: Journal of Experimental Medicine
J Exp Med (2025) 223 (1): e20241336.
https://doi.org/10.1084/jem.20241336
Published: 23 October 2025
View article titled, Pathogenesis of polyglutamine diseases: Piecing together a complex molecular puzzle
Open the PDF for Pathogenesis of polyglutamine diseases: Piecing together a complex molecular puzzle in another window
Journal Articles

Identification of lymphatic vessels in skull periosteum but not bone marrow reveals skull channel heterogeneity

In Special Collection:
2025: The Year in Experimental Medicine , Lymphatic Vessels in Health and Disease 2026
Qing Chang, Li Ma, Ziying Lin, Yang Shu, Pao-Fen Ko, Matthew Blumberg, Jian-Fu Chen
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (12): e20241971.
https://doi.org/10.1084/jem.20241971
Published: 19 September 2025
View article titled, Identification of lymphatic vessels in skull periosteum but not bone marrow reveals skull channel heterogeneity
Open the PDF for Identification of lymphatic vessels in skull periosteum but not bone marrow reveals skull channel heterogeneity in another window
Journal Articles

A high-throughput zebrafish screen identifies novel candidate treatments for kaposiform lymphangiomatosis (KLA)

In Special Collection:
Lymphatic Vessels in Health and Disease 2026
Ivan Bassi, Amani Jabali, Lotan Levin, Giuseppina Lambiase, Noga Moshe, Naama Farag, Yaara Tevet, Gal Perlmoter, Shany Egozi, Gil S. Leichner, Polina Geva, Aviv Barzilai, Camila Avivi, Jonathan Long, Jason J. Otterstrom, Yael Paran, Haim Barr, Karina Yaniv, Shoshana Greenberger
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (11): e20240513.
https://doi.org/10.1084/jem.20240513
Published: 21 August 2025
View article titled, A high-throughput zebrafish screen identifies novel candidate treatments for kaposiform lymphangiomatosis (KLA)
Open the PDF for A high-throughput zebrafish screen identifies novel candidate treatments for kaposiform lymphangiomatosis (KLA) in another window
Includes: Supplementary data
Journal Articles

ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma

Maggie P. Fu, Mehul Sharma, Pariya Yousefi, Sarah M. Merrill, Ryan Tan, Simran Samra, Audi Setiadi, Liam Golding, Bhavi P. Modi, Kate L. Del Bel, Rebecca J. Deyell, Jacob Rozmus, Wingfield Rehmus, Kyla J. Hildebrand, Elliot James, Géraldine Blanchard-Rohner, Susan Lin, Kevin E. Shopsowitz, Jefferson Terry, Anna F. Lee, Britt I. Drögemöller, Allison Matthews, Maja Tarailo-Graovac, Laura Sauvé, Hana Mitchell, Julie S. Prendiville, Julia L. MacIsaac, Kristy Dever, David T.S. Lin, Mandy Meijer, Colin J.D. Ross, Simon R.M. Dobson, Suzanne M. Vercauteren, Wyeth W. Wasserman, Clara D.M. van Karnebeek, Margaret L. McKinnon, Michael S. Kobor, Stuart E. Turvey, Catherine M. Biggs
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (10): e20240945.
https://doi.org/10.1084/jem.20240945
Published: 31 July 2025
View article titled, ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma
Open the PDF for ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma in another window
Includes: Supplementary data
Journal Articles

Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis

Tomoyuki Iwata, Yoko Mizoguchi, Tetsuya Yoshimoto, Miyuki Tsumura, Fumiaki Sakura, Jeffrey R. Johnson, Shinji Matsuda, Kazuhisa Ouhara, Yukiko Nagatani, Takaki Asano, Hidenori Ohnishi, Zenichiro Kato, Keichiro Mihara, Hirokazu Kanegane, Tomoya Ueda, Shinya Sasaki, Yuri Taniguchi, Yurika Ninomiya, Yoshinori Ohno, Kyoko Suzuki-Takedachi, Yusuke Sotomaru, Tetsushi Sakuma, Takashi Yamamoto, Yukiko Matsuda, Kodai Kume, Terukazu Sanui, Fusanori Nishimura, Mikihito Kajiya, Yasuyoshi Ueki, Hidemi Kurihara, Hiroyuki Morino, Satoshi Okada, Hideshi Kawakami, Noriyoshi Mizuno
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (9): e20231911.
https://doi.org/10.1084/jem.20231911
Published: 15 July 2025
View article titled, Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis
Open the PDF for Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis in another window
Includes: Supplementary data
Journal Articles

The STING pathway drives noninflammatory neurodegeneration in NGLY1 deficiency

In Special Collection:
Neuroscience Collection 2025 , Pattern Recognition Receptors and Beyond , Cytokines Collection 2025
Kun Yang, Gustavo Torres-Ramirez, Nicole Dobbs, Jie Han, Makoto Asahina, Reiko Fujinawa, Kun Song, Yun Liu, Weichun Lin, Angelica Oviedo, Chuo Chen, Lei Zhu, William F. Mueller, Kevin Lee, Tadashi Suzuki, Nan Yan
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (10): e20242296.
https://doi.org/10.1084/jem.20242296
Published: 11 July 2025
View article titled, The STING pathway drives noninflammatory neurodegeneration in NGLY1 deficiency
Open the PDF for The STING pathway drives noninflammatory neurodegeneration in NGLY1 deficiency in another window
Includes: Supplementary data
Journal Articles

A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis

Maryam Vaseghi-Shanjani, Mehul Sharma, Pariya Yousefi, Simran Samra, Kaitlin U. Laverty, Arttu Jolma, Rozita Razavi, Ally H.W. Yang, Mihai Albu, Liam Golding, Anna F. Lee, Ryan Tan, Phillip A. Richmond, Marita Bosticardo, Jonathan H. Rayment, Connie L. Yang, Kyla J. Hildebrand, Rae Brager, Michelle K. Demos, Yu-Lung Lau, Luigi D. Notarangelo, Timothy R. Hughes, Catherine M. Biggs, Stuart E. Turvey
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (8): e20241174.
https://doi.org/10.1084/jem.20241174
Published: 20 May 2025
View article titled, A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis
Open the PDF for A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis in another window
Includes: Supplementary data
Journal Articles

Identifying genetic errors of immunity due to mosaicism

In Special Collection:
Genes and Immunity , JEM Clinical Immunology Collection 2025
Elizabeth G. Schmitz, Malachi Griffith, Obi L. Griffith, Megan A. Cooper
Journal: Journal of Experimental Medicine
Series: Genes and Immunity Focus
J Exp Med (2025) 222 (5): e20241045.
https://doi.org/10.1084/jem.20241045
Published: 15 April 2025
View article titled, Identifying genetic errors of immunity due to mosaicism
Open the PDF for Identifying genetic errors of immunity due to mosaicism in another window
Journal Articles

Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency

András N. Spaan, Bertrand Boisson, Seth L. Masters
Journal: Journal of Experimental Medicine
Series: Genes and Immunity Focus
J Exp Med (2025) 222 (5): e20241047.
https://doi.org/10.1084/jem.20241047
Published: 15 April 2025
View article titled, Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency
Open the PDF for Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency in another window
Journal Articles

Human immunity to fungal infections

In Special Collection:
JEM Clinical Immunology Collection 2025
Donald C. Vinh
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (6): e20241215.
https://doi.org/10.1084/jem.20241215
Published: 15 April 2025
View article titled, Human immunity to fungal infections
Open the PDF for Human immunity to fungal infections in another window
Journal Articles

Suppression of BRCA1 facilitates kidney regeneration

Kaira A. Church, Xunian Zhou, Raghu Kalluri
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (6): e20241814.
https://doi.org/10.1084/jem.20241814
Published: 28 March 2025
View article titled, Suppression of BRCA1 facilitates kidney regeneration
Open the PDF for Suppression of BRCA1 facilitates kidney regeneration in another window

Advertisement

This Feature Is Available To Subscribers Only

or Create an Account

Close Modal
Close Modal